Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 1, 2011, Pages

  Choi, Jin Ho ^a   Kang, Minji ^a   Kim, Gu Hwan ^a   Hong, Maria ^a   Jin, Hye Young ^a   Lee, Beom Hee ^a   Park, Jung Young ^a   Lee, Se Min ^b   Seo, Eul Ju ^a   Yoo, Han Wook ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b Hanyang University Guri Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN KINASE B; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C RECEPTOR; TYROSINE;

ARTICLE; AUTOPHOSPHORYLATION; CASE REPORT; CHILD; CHROMOSOME 15Q; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; INTRAUTERINE GROWTH RETARDATION; INTRON; MALE; POLYMERASE CHAIN REACTION; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SHORT STATURE; SKIN FIBROBLAST; WESTERN BLOTTING;

EID: 78650877978     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1789     Document Type: Article

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